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UniProtKB/Swiss-Prot O14832: Variant p.Gly204Ser

Phytanoyl-CoA dioxygenase, peroxisomal
Gene: PHYH
Variant information

Variant position:  204
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Serine (S) at position 204 (G204S, p.Gly204Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In RD; total loss of activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  204
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  338
The length of the canonical sequence.

The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.


Mouse                         RPSNLIVC------AWTAMEHIDRNNGCLVVLPGTH-KGTL

Rat                           RPSNLIVC------AWTAMEHIDRNNGCLVVLPGTH-KGPL

Bovine                        RPSNSIVC------AWTAMEHIDRNNGCLVVLPGTH-KGPL

Caenorhabditis elegans        RPADFICC------AWTAMEKITRANGCLVVVPGTH-KGVL


Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

Chain 31 – 338 Phytanoyl-CoA dioxygenase, peroxisomal
Binding site 193 – 193 Alpha-ketoglutarate

Literature citations

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Jansen G.A.; Hogenhout E.M.; Ferdinandusse S.; Waterham H.R.; Ofman R.; Jakobs C.; Skjeldal O.H.; Wanders R.J.A.;
Hum. Mol. Genet. 9:1195-1200(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS RD SER-173; LYS-176; GLY-177; ALA-192 INS; ARG-193; GLN-197; PHE-199; SER-204; TYR-220; SER-257; HIS-269; GLN-275 AND TRP-275; VARIANTS SER-29 AND GLN-245;

Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
Jansen G.A.; Ferdinandusse S.; Hogenhout E.M.; Verhoeven N.M.; Jakobs C.; Wanders R.J.A.;
Adv. Exp. Med. Biol. 466:371-376(1999)
Cited for: VARIANT RD SER-204;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.